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2012-01-14-09 Case of the week #315 © Grochal, Cuillier www.TheFetus.net


Answer to the case of the week #315

March 29th, 2012 - April 12th, 2012

Frantisek Grochal, MD1; Krsiakova Jana, MD2 
E. Kaufmann, MD3; D. Mardamootoo4; Fabrice Cuillier, MD5; F. Cartault, MD6.

1 Femicare, s.r.o., Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic. UVN SNP Ruzomberok, Gynecological and obstetrical department. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic;
2
Genetic department, M-Genetik, s.r.o., Martin, Slovak republic;
3 Praticien Hospitalier, Department of Gynecology, GHSR, 97400 Saint-Pierre, Ile de la Réunion, France;
4 Midwife, Department of Gynecology, GHSR, 97400 Saint-Denis, Ile de la Réunion, France;
5 Praticien Hospitalier, Department of Gynecology, Hôpital Félix Guyon, 97400 Saint-Denis, Reunion;
6 Praticien Hospitalier, Department of Genetic, Hôpital Félix Guyon, 97400 Saint-Denis, Reunion.


(Edited by F. G.)

These two cases represent the same fetal pathology:

Case 1

23-year-old woman (G2P1) with non-contributive history was sent to our unit at 29 weeks, 4 days of gestational age due to polyhydramnios. Her biochemical double test (AFP and HCG) was reported to be normal (in some practices in Slovakia, only the double test is performed instead of triple test).

Our examination found multiple fetal anomalies:

  • Intrauterine growth retardation
  • Moderate dilatation of lateral cerebral ventricles
  • Abnormal fetal profile with micrognathia and thickened prenasal skinfold
  • Small ears with over-folded helices
  • Ventricular septal defect
  • Massive polyhydramnios with absence of the stomach (esophageal atresia was suspected, but later, microgastria with patent esophagus was found by autopsy)
  • Omphalocele
  • Horseshoe kidney with dilatation of renal pelvises
  • Abnormal hands (suspected syndactyly) with abnormally shaped fingers
  • Bilateral club feet (pedes equines)
  • Female gender of the fetus
     
Therapeutic amniocentesis (due to severe polyhydramnios impeding maternal breathing) was performed at 31st week of gestation and revealed male karyotype 46XY (phenotypically female gender!). The newborn was delivered after premature rupture of membranes in 32 weeks of gestation and died soon after delivery. Final genetic conclusion was Smith–Lemli–Opitz syndrome.

Images 1, 2: 29 weeks, 4 days of gestational age; the images show fetal head with abnormal facial profile, micrognathia and thickened prenasal skinfold. The image 2 represents transverse scan of the fetal face at the level of orbits - subtle hypertelorism can be seen.

 

Images 3, 4: 29 weeks, 4 days of gestational age; the images show transverse scans of the fetal head with moderate dilatation of the lateral cerebral ventricles.

 

Image 5, and video 1: 29 weeks, 4 days of gestational age; the image and video show ventricular septal defect of the heart.

 
 

Images 6, 7, and 8
: 29 weeks, 4 days of gestational age; the images show transverse scans of the fetal abdomen with dilated renal pelvises and fused renal tissues - horseshoe kidney was suspected. Severe polyhydramnios is also visible (image 6).

 



Image 9: 29 weeks, 4 days of gestational age; the image shows transverse scans of the fetal abdomen with absent stomach - esophageal atresia was suspected, but later the autopsy found microgastria with patent esophagus. Severe polyhydramnios is also evident.



Images 10, 11: 29 weeks, 4 days of gestational age; the images show fetal gender of female appearance, although its genotypic gender was masculine (46XY).

 

Images 12, 13, and 14: 29 weeks, 4 days of gestational age; the images show fetal gender of female appearance, although its genotypic gender was masculine (46XY).

 



Images 15, 16, 17, 18, 19, 20, 21, 22, and 23: 29 weeks, 4 days of gestational age; 3D images showing several fetal anomalies: abnormal hands (images 15, 16, 18, 19, 20, 21) , abnormal fetal profile with micrognathia and small ears with overfolding of the upper helix (image 17), omphalocele (image 18), club feet - pedes equines (images 22, 23).

 

 

 

 



Case 2

A 36-year-old woman (G2P1) from a non-consanguineous couple, with non-contributive history, was scanned in our facility during her first and second trimester of pregnancy.

During the first ultrasonographic examination, an abnormal nuchal translucency (5.7 mm) was noted (Image 1). Amniocentesis was done consequently, but revealed normal karyotype (46,XY).

Her second ultrasound was done at 21 weeks of pregnancy. The examination found oligodactyly of the right hand (only four fingers were seen); the left hand appeared normal (Images 2-10). Lower extremities were of normal appearance. 

Fetal gender was of female appearance (Images 11, 12). Intrauterine growth restriction was also noted.
 
Because of the discrepancy between the ultrasonographic female gender of the fetus and the male karyotype from previous amniocentesis (46XY), another amniocentesis was perforemed focused on determination of cholesterol, and cholesterol metabolites levels. The male karyotype was re-confirmed, with elevated level of 7-dehydrocholesterol (normally undetectable), leading us to the diagnosis of Smith-Lemli-Opitz syndrome. The parents opted for the termination of the pregnancy.

Image 1: Abnormal nuchal translucency during the first trimester scan (NT 5,7 mm).



Images 2, 3, 4, and 5: 21 weeks of gestational age; oligodactyly (only four fingers) can be seen on the right hand.

 

 

Images 6, 7, 8, 9, and 10: 21 weeks of gestational age; oligodactyly (only four fingers) can be seen on the right hand. The left hand has normal morphology. The image 10 shows normal fetal feet.

 

 



Images 11, 12: 21 weeks of gestational age; the images show fetal gender of female appearance, although genotypic gender was masculine (46XY).

 
  
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